Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: HOXA3

Dinges et al. described 1 patient from 1 kindred, harboring homozygous mutations in the HOXA3 gene. They presented with congenital athymia, craniofacial and cervical anomalies, and severe laryngopharyngeal malformation with epiglottic hypoplasia causing dysphagia and aspiration. The underlying mechanism and phenotype were validated in vitro using artificial thymic organoids, demonstrating that the truncated protein undergoes cytoplasmic retention and reduced transcriptional activity, resulting in a strictly non-hematopoietic failure of T-cell maturation.
Sources: Literature

Created: 26 Oct 2026, 1:49 p.m. | Last Modified: 26 Oct 2026, 1:49 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital athymia; Hypoplasia of the epiglottis; Dysphagia; Respiratory aspiration; Abnormality of the face; Abnormality of the neck; Severe combined immunodeficiency

Publications

• 42805310